Month: November 2020

ELIXIR Slovenia team co-authored a paper about the ELIXIR Human Copy Number Variations Community

ELIXIR Slovenia actively participates in the ELIXIR Human Copy Number Variations (hCNV) community. We have recently co-authored a paper that outlines our work programme and has been published in the F1000Research journal. The paper defines seven strategic objectives of the hCNV community: pipelines for CNV detection, definition of reference datasets, data exchange formats, use of Beacon and Phenopackets to find similarities between cases, creation of new tools, FAIRification, and dissemination activities.

Copy Number Variations represent the most common type of genetic mutations associated with human diseases. However, the identification and interpretation of CNVs is still a major challenge. The seven strategic objectives described in the F1000 paper represent the means to address this challenge. The hCNV community has already been working on these objectives in the framework of the first Implementation Study, which kicked-off in June 2019.

Besides these objectives, the paper outlines interactions and links with other ELIXIR Communities and Platforms (e.g. with the Data Platform and the Interoperability Platform). The ELIXIR Data Platform will support the creation of deposition databases for CNV data and the Interoperability Platform will support the development of recommendations for CNV reporting formats.

PerMedCoE: new center of excellence for European Personalised Medicine

Coordinated by the Barcelona Supercomputing Center (BSC) and funded by the European Commission, this recently launched HPC Centre of Excellence (CoE) will optimise codes for cell-level simulations in HPC/Exascale and bridge the gap between organ and molecular simulations, thus contributing to the European Personalised Medicine Roadmap.

University of Ljubljana, Faculty of Medicine (the lead institution of ELIXIR Slovenia) is among the 12 world-class academic and industry partners from across Europe that are participating in this CoE. Please visit the PerMedCoE website to learn more about the project.

Success for Beyond 1 Million Genome Stakeholders Virtual Meeting

The Beyond 1 Million Genome Stakeholders Meeting was successfully held online on Wednesday, 21 October 2020, with more than 220 participants. The core aims of the 1 Million Genome Stakeholder Coordination Framework initiative are to connect national genomic data infrastructures, harmonize the ethical and legal framework for sharing sensitive data, and co-ordinate the implementation of genomic technologies in national and European health-care systems.

The European Commission is working on an European Health Data governance framework, the European Parliament is allocating healthcare funding, and there is a growing conviction among Europe’s policymakers that people must be at the centre of any healthcare improvement strategy.

The ambition of the European Commission is a transition to a healthy planet and a new digital world. European citizens expect access to health care and protection against epidemics. However, many chances for improvement are still waiting to be taken up, especially in the field of personalized healthcare. Secure and authorized cross-border access to genomic data would improve patient outcomes, ensure sustainability of healthcare, enable the diagnosis and treatment of cancer at a much earlier stage, advance the understanding of genetic factors that cause common diseases, and strengthen the effectiveness of disease prevention by improving the screening accuracy.